Whole Genome Sequencing referrals
Oxford Centre for Genomic Medicine has a team of Genomic Practitioners who can undertake some of the administrative tasks associated with whole genome sequencing (WGS) requesting, for example. patient consent.
WGS analysis will only begin once all forms have been completed with all the required information and samples have been received.
Avoid sending incomplete documentation, as any omissions will result in a delay to sample submission. The laboratory or Genomic Practitioner Team will need to contact you to request any missing information.
Please find below further information about:
- requesting WGS for rare disease
- how to use the national genomic test directory, PanelApp
- requesting and completing forms for WGS
- other frequently asked questions.
Contact us
If you need any support, please contact the Genomic Practitioner Team.
Tel: 01865 737863
Email: ouh-tr.clinicalgenetics.genomicpractitioner@nhs.net
How to request WGS
Step 1
Check for eligibility
Check the National Genomic Test Directory for relevant documents outlining the eligibility criteria. These are subject to version control and updated regularly.
Step 2
Collect patient sample/s
Blood samples in EDTA are required to extract DNA for WGS.
This should be at least 1-3 mL for neonates and 3-5 mL for other patients referred.
Send the sample/s to Oxford Regional Genetics Laboratories with a completed 'Oxford Genetics Laboratories - request form':
Referral forms - Oxford Genetics Laboratories
Step 3
Complete the test order form
Complete the test order form fully and accurately to prevent delays.
The forms are subject to version control and can be found at the link below.
NHS Genomic Medicine Service test order forms
Video
Completing Whole Genome Sequencing (WGS) forms - YouTube
Step 4
Discuss WGS with the patient / patient's family
This conversation should take place before referring to the Genomic Practitioner Team.
For help completing the Record of Discussion, forward the completed test order form to the Genomic Practitioner Team.
Step 5
Provide relevant leaflets and blood request forms for parents (if necessary)
If possible, please collect the blood samples in the same appointment. Otherwise, you will need to provide a blood test request form for other members of the family put forward for testing.
The forms can be brought to the patient's GP or local hospital.
Links
Resources
Forms
Last reviewed:25 January 2024